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Lastentaudit ja lääketieteellinen genetiikka, LT

Publications 2006 2017

A missense mutation in SLC26A3 is associated with human male subfertility and impaired activation of CFTR

Wedenoja, S., Khamaysi, A., Shimshilashvili, L., Anbtawe-Jomaa, S., Elomaa, O., Toppari, J., Hoglund, P., Aittomaki, K., Holmberg, C., Hovatta, O., Tapanainen, J. S., Ohana, E. & Kere, J., 27 Oct 2017, In : Scientific Reports. 7, 11 p., 14208.

Research output: Contribution to journalArticleScientificpeer-review

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Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea

Janecke, A. R., Heinz-Erian, P., Yin, J., Petersen, B-S., Franke, A., Lechner, S., Fuchs, I., Melancon, S., Uhlig, H. H., Travis, S., Marinier, E., Perisic, V., Ristic, N., Gerner, P., Booth, I. W., Wedenoja, S., Baumgartner, N., Vodopiutz, J., Frechette-Duval, M-C., De Lafollie, J. & 13 others, Persad, R., Warner, N., Tse, C. M., Sud, K., Zachos, N. C., Sarker, R., Zhu, X., Muise, A. M., Zimmer, K-P., Witt, H., Zoller, H., Donowitz, M. & Mueller, T., 1 Dec 2015, In : Human Molecular Genetics. 24, 23, p. 6614-6623 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Slc26a3/Dra and Slc26a6 in Murine Ameloblasts

Jalali, R., Zandieh-Doulabi, B., DenBesten, P. K., Seidler, U., Riederer, B., Wedenoja, S., Micha, D. & Bronckers, A. L. J. J., Dec 2015, In : Journal of Dental Research. 94, 12, p. 1732-1739 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Follow-up of a child with congenital chloride diarrhoea caused by a novel mutation

Dechant, M-J., Wedenoja, S., Höglund, P. A., Prange-Schmidt, S., Zimmer, K-P. & Heckmann, M., 2012, In : Acta Paediatrica. 101, 6, p. e256-e259 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Congenital chloride diarrhea misdiagnosed as Bartter syndrome

Egritas, O., Dalgic, B. & Wedenoja, S., 2011, In : Turkish Journal of Gastroenterology. 22, 3, p. 321-323 3 p.

Research output: Contribution to journalArticleScientificpeer-review